Previous HGNC Symbols for GJA3 Gene

Previous GeneCards Identifiers for GJA3 Gene

Summaries for GJA3 Gene

Entrez Gene Summary for GJA3 Gene

The protein encoded by this gene is a connexin and is a component of lens fiber gap junctions. Defects in this gene are a cause of zonular pulverulent cataract type 3 (CZP3). [provided by RefSeq, Jan 2010]

UniProtKB/Swiss-Prot

Cataract 14, multiple types (CTRCT14) [MIM:601885]: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT14 includes zonular pulverulent cataract, among others. Zonular or lamellar cataracts are opacities, broad or narrow, usually consisting of powdery white dots affecting only certain layers or zones between the cortex and nucleus of an otherwise clear lens. The opacity may be so dense as to render the entire central region of the lens completely opaque, or so translucent that vision is hardly if at all impeded. Usually sharply separated from a clear cortex outside them, they may have projections from their outer edges known as riders or spokes. {ECO:0000269 PubMed:10205266, ECO:0000269 PubMed:10746562, ECO:0000269 PubMed:14627959, ECO:0000269 PubMed:15208569, ECO:0000269 PubMed:15286166, ECO:0000269 PubMed:15448617, ECO:0000269 PubMed:16234473, ECO:0000269 PubMed:16254549, ECO:0000269 PubMed:16885921, ECO:0000269 PubMed:16971895, ECO:0000269 PubMed:17615540, ECO:0000269 PubMed:17893674, ECO:0000269 PubMed:20431721, ECO:0000269 PubMed:21552498, ECO:0000269 PubMed:21647269, ECO:0000269 PubMed:21681855, ECO:0000269 PubMed:21897748, ECO:0000269 PubMed:22312188, ECO:0000269 PubMed:24772942, ECO:0000269 PubMed:25635993, ECO:0000269 PubMed:26683566}. Note=The disease is caused by mutations affecting the gene represented in this entry.